UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dermatan sulfate catabolic process | ||
single fertilization | ||
myelination | ||
intracellular calcium ion homeostasis | ||
hyaluronan catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cortical granule | ||
extracellular region | ||
azurophil granule | ||
membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
N-acetyl-beta-D-galactosaminidase activity | ||
acetylglucosaminyltransferase activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:11832 | visual epilepsy | |
DOID:12377 | spinal muscular atrophy | |
DOID:1289 | neurodegenerative disease | |
DOID:13174 | dissociated nystagmus | |
DOID:13709 | premature ejaculation | |
DOID:1432 | blindness | |
DOID:1520 | colon carcinoma | |
DOID:1826 | epilepsy | |
DOID:1875 | impotence | |
DOID:219 | colon cancer |
HPO ID | HPO Term |
---|---|
HP:0003202 | Skeletal muscle atrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003390 | Sensory axonal neuropathy |
HP:0003394 | Muscle spasm |
HP:0003429 | CNS hypomyelination |
HP:0003484 | Upper limb muscle weakness |
HP:0003593 | Infantile onset |
HP:0003701 | Proximal muscle weakness |
HP:0003819 | Death in childhood |
HP:0004343 | Abnormal glycosphingolipid metabolism |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100013886 | MONDO17725 | ||
114044690 | VOMUR15792 | ||
113879069 | BOBOX36036 | ||
113879210 | BOBOX36038 | ||
102540175 | VICPA04750 | ||
100963595 | OTOGA15242 | ||
101067014 | TAKRU44520 | ||
105723908 | AOTNA06896 | ||
101960876 | ICTTR04434 | ||
101596572 | JACJA02528 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024